| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. | 27083775 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | 22213089 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. | 16266405 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. | 12497634 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | 9463314 | 1998 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. | 8789452 | 1996 |
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|
C | 0.700 | CausalMutation | CLINVAR | Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. | 9000145 | 1996 |